Hereditary and familial diseases and malformations of kidneys in childhood

T.V. Sorokman, V.G. Ostapchuk, O.V. Makarova

Abstract

The article presents the results of a review on the incidence and characteristics of the course of hereditary kidney diseases. According to the World Health Organization, the incidence of hereditary diseases and kidney anomalies is 2.5–3 % in newborns, about 1 % are gene diseases, 0.5 % — chromosomal and an average of 1.5–2 % falls on the congenital malformations caused by unfavorable exogenous and endogenous factors. Currently, about 50 genetically determined diseases of the kidneys and urinary tracts are known. For some variants of pathology (kidney dysplasia, tubulopathy, renal amyloidosis), the formation of renal failure is already characteristic for childhood. A clinical case is described of thin basement membrane disease (genetically determined non-immune glomerulopathy, which depends on the mutation of the collagen genes IV type COL4A4/COL4A3) in a 9-year-old child. This case is of interest from the point of view of the manifestation and course of the disease, as against the background of thin basement membrane disease, immune glomerulonephritis has developed and, possibly, frequent acute respiratory infections have become the predisposing factor. Genetic studies of families with similar clinical phenotypes should be a priority for nephrologists.